A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3007n54



Internal ID20136431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131701134..131725518hg38UCSC Ensembl
chr12:132185679..132210063hg19UCSC Ensembl
chr12:130751632..130776016hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3824385
hg1924385
hg1824385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560926, nsv560911, nsv560918, nsv560916, nsv560917, nsv560925, nsv560923
Samples
Known GenesSFSWAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3007n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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